$650 Newborn Test Looks For 193 Genetic Diseases

In the United States the recommended newborn screening test involves a small sample of blood being taken from a baby’s heel that looks for a minimum of 34 disorders. In Canada the same Newborn Screening Ontario (NSO) samples for 5 groups of diseases.

Knowing that parents may want more information about their child’s genes than this standard testing delivers, Sema4 has developed a saliva test that searches for 193 genetic diseases, like anemia, epilepsy, and metabolic disorders.

“If you can, at birth, canvass some of the most common disorders, you get a better understanding of the health of your child,” Eric Schadt, CEO of Sema4 says. “We think parents want the best for their children and are going to do whatever they can so that their child can have the healthiest life possible.”

The Sema4 Natalis test uses advanced DNA sequencing technology to detect changes in your baby’s genes with >95% accuracy. It also analyzes how a baby is likely to respond to 38 medications commonly prescribed in early childhood. This can help doctors personalize treatment for your child throughout their life.

But many ask is knowledge power or does it cause paranoia?

Even if a baby has a mutation in a gene, it could take years for symptoms to appear. So do parents wait or proactively look for early treatments? This is where having the information will become a challenge because sometimes a child can carry a mutation but never develop the corresponding disease.

Personally, I think this is a good option for kids of parents who are at a higher risk for serious genetic conditions or those who have already been diagnosed with something serious and the family is looking to see if there is more happening.

What are your thoughts? Would you order this test? Is knowledge power for you?